Citation:
Nat Commun. 2014 Jun 2;5:4011. doi: 10.1038/ncomms5011
Abstract:
Coffin-Siris syndrome (CSS) is a congenital disorder characterized by growth deficiency, intellectual disability, microcephaly, characteristic facial features and hypoplastic nails of the fifth fingers and/or toes. We previously identified mutations in five genes encoding subunits of the BAF complex, in 55% of CSS patients. Here we perform whole-exome sequencing in additional CSS patients, identifying de novo SOX11 mutations in two patients with a mild CSS phenotype. sox11a/b knockdown in zebrafish causes brain abnormalities, potentially explaining the brain phenotype of CSS. SOX11 is the downstream transcriptional factor of the PAX6-BAF complex, highlighting the importance of the BAF complex and SOX11 transcriptional network in brain development.
Epub:
Not Epub
Link to Publication:
http://www.nature.com/ncomms/2014/140602/ncomms5011/full/ncomms5011.html
Organism or Cell Type:
zebrafish
Delivery Method:
microinjection